Childhood solid tumours

Gene: BAP1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 6 Dec 2024, 10:34 a.m. | Last Modified: 6 Dec 2024, 10:34 a.m.

Panel Version: 4.20

Comment on list classification: Well-established tumour suppressor gene associated with a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma.

Onset is typically in adulthood but following specialist review, it was agreed that it is appropriate to include the BAP1 gene on this panel. Rare paediatric cases are reported, as reviewed by Terri McVeigh (The Royal Marsden NHS).

Created: 9 Jan 2024, 11:48 a.m. | Last Modified: 9 Jan 2024, 11:50 a.m.

Panel Version: 4.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Discussed at UKCGG/cancer leads meeting 06/07/2023 - agreed reasonable to include on panel
Sources: Expert Review

Created: 20 Dec 2023, 8:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
uveal melanoma; mesothelioma; cholangiocarcioma; cutaneous melanoma; renal cell carcinoma; meningioma

Publications

• 23552620
• 30517737
• 31382694
• https://doi.org/10.1016/j.ejcped.2023.100023
• 29981911